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Naxos Disease (MONDO:0011017)

A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.

Overview

Category

musculoskeletal system disorder

syndromic disease

cardiovascular disorder

Ontology ID

MONDO:0011017

Internal:12143

Synonyms

KWWH type I

NAXOS disease

NXD

Naxos disease

keratoderma with woolly hair type I

keratoderma with wooly hair type I

keratosis palmoplantaris with arrythmogenic cardiomyopathy

palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy

palmoplantar keratoderma with arrythmogenic cardiomyopathy

Mal De Naxos

cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities

keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair

keratosis palmoplantaris arrythmogenic cardiomyopathy wooly hair

keratosis palmoplantaris with arrhythmogenic cardiomyopathy

palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair

palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and wooly hair

woolly hair palmoplantar keratoderma cardiac abnormalities

woolly hair, palmoplantar keratoderma, and Cardiac abnormalities

wooly hair palmoplantar keratoderma cardiac abnormalities

wooly hair, palmoplantar keratoderma, and Cardiac abnormalities

Mapped terms

DOID:0080551

GARD:0009795

MEDGEN:321991

MESH:C538346

OMIM:601214

Orphanet:34217

SCTID:715535009

UMLS:C1832600

icd11.foundation:633516876

Child terms

Unknown children.

Results

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